IllnessCapillary malformation-arteriovenous malformation, differential diagnosis

NGS +

Capillary malformation/arteriovenous malformation syndrome is postnatally apparent via changes in the capillaries of the face, arms and legs, or it develops in childhood without other health problems. The capillary malformations appear isolated, or more severe arteriovenous malformations may also develop, including fistulas. The latter can cause complications such as hemorrhage, migraine, seizures and heart failure. The complications also occur in infancy or early childhood. The vascular anomalies resemble those of Parkes-Weber syndrome, in which there is additional overgrowth of a limb. Both syndromes may be due to mutations in the RASA1 and EPHB4 genes. In the differential diagnosis, additional genes are to be considered. All the related disorders are inherited in an autosomal dominant manner. The diagnostic yield is unknown; therefore, a negative DNA test result may not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK52764/

• Alias: Capillary malformation-arteriovenous malformation
• Alias: Naevus flammeus
• Alias: Port-wine stain
• Allelic: Basal cell carcinoma, somatic (RASA1)
• Allelic: Breast cancer, somatic (PIK3CA)
• Allelic: Colorectal cancer, somatic (PIK3CA)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Cowden syndrome 5 (PIK3CA)
• Allelic: Gastric cancer, somatic (PIK3CA)
• Allelic: Glaucoma 3, primary congenital, E (TEK)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
• Allelic: Keratosis, seborrheic, somatic (PIK3CA)
• Allelic: Lymphatic malformation 7 (EPHB4)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Macrodactyly, somatic (PIK3CA)
• Allelic: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
• Allelic: Meningioma (PTEN)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Nevus, epidermal, somatic (PIK3CA)
• Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
• Allelic: Ovarian cancer, somatic (PIK3CA)
• Allelic: Pancreatic cancer, somatic (SMAD4)
• Allelic: Polyposis, juvenile intestinal (SMAD4)
• Allelic: Prostate cancer, somatic (PTEN)
• CLAPO [Lopez-Gutierrez] syndrome, somatic (PIK3CA)
• CLOVE [Cong. Lipomatous Overgrowth, Vascular Malformations, Epid. nevi] syndrome, somatic (PIK3CA)
• Capillary malformation-arteriovenous malformation 1 (RASA1)
• Capillary malformation-arteriovenous malformation 2 (EPHB4)
• Capillary malformations, congenital, 1, somatic, mosaic (GNAQ)
• Glomuvenous malformations (GLMN)
• Hypocalcemia, AD 2 (GNA11)
• Hypocalciuric hypercalcemia, type II (GNA11)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Lhermitte-Duclos syndrome (PTEN)
• Microcephaly-capillary malformation syndrome (STAMBP)
• Sturge-Weber syndrome, somatic, mosaic (GNAQ)
• Telangiectasia, hereditary hemorrhagic, type 1 (EMNG)
• Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
• Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
• Venous malformations, multiple cutaneous + mucosal (TEK)